Canonical Allele Identifier: CA426121995

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1151269
• ClinVar RCV Id: RCV001492123 ; RCV001524654
• dbSNP Id: rs863224625
• gnomAD v4: 2-47800653-C-T
• MyVariant Identifiers: chr2:g.48027792C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47800653C>T , CM000664.2:g.47800653C>T	GRCh38
NC_000002.11:g.48027792C>T , CM000664.1:g.48027792C>T	GRCh37
NC_000002.10:g.47881296C>T	NCBI36
NG_007111.1:g.22507C>T , LRG_219:g.22507C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.2373C>T (MSH6)	ENSP00000406248.2:p.Val791=
ENST00000420813.6:c.2373C>T (MSH6)	ENSP00000390382.2:p.Val791=
ENST00000455383.6:c.2373C>T (MSH6)	ENSP00000397484.2:p.Val791=
ENST00000700004.2:c.2670C>T (MSH6)	ENSP00000514752.2:p.Val890=
ENST00000699999.1:n.2754C>T (MSH6)
ENST00000700000.1:c.1606+1064C>T (MSH6)	ENSP00000514749.1:n.1606+1064C>T
ENST00000700002.1:c.2676C>T (MSH6)	ENSP00000514750.1:p.Val892=
ENST00000700003.1:c.628-2767C>T (MSH6)	ENSP00000514751.1:n.628-2767C>T
ENST00000700004.1:c.1827C>T (MSH6)	ENSP00000514752.1:p.Val609=
ENST00000234420.11:c.2670C>T (MSH6) MANE Select	ENSP00000234420.5:p.Val890=
ENST00000540021.6:c.2280C>T (MSH6)	ENSP00000446475.1:p.Val760=
ENST00000652107.1:c.2373C>T (MSH6)	ENSP00000498629.1:p.Val791=
ENST00000673637.1:c.2373C>T (MSH6)	ENSP00000501310.1:p.Val791=
ENST00000234420.9:c.2670C>T (MSH6)	ENSP00000234420.4:p.Val890=
ENST00000405808.5:c.169+7542G>A (FBXO11)	ENSP00000385127.1:n.169+7542G>A
ENST00000434234.5:c.*124+7341G>A (FBXO11)	ENSP00000402692.1:n.*124+7341G>A
ENST00000445503.5:c.*2017C>T (MSH6)	ENSP00000405294.1:n.*2017C>T
ENST00000538136.1:c.1764C>T (MSH6)	ENSP00000438580.1:p.Val588=
ENST00000540021.5:c.2280C>T (MSH6)	ENSP00000446475.1:p.Val760=
ENST00000614496.4:c.1764C>T (MSH6)	ENSP00000477844.1:p.Val588=
ENST00000616033.4:c.2667C>T (MSH6)	ENSP00000480261.1:p.Val889=
ENST00000622629.4:c.-427C>T (MSH6)	ENSP00000482078.1:n.-427C>T
NM_000179.2:c.2670C>T , LRG_219t1:c.2670C>T (MSH6)	NP_000170.1:p.Val890=
NM_001281492.1:c.2280C>T (MSH6)	NP_001268421.1:p.Val760=
NM_001281493.1:c.1764C>T (MSH6)	NP_001268422.1:p.Val588=
NM_001281494.1:c.1764C>T (MSH6)	NP_001268423.1:p.Val588=
XM_005264271.1:c.2373C>T (MSH6)	XP_005264328.1:p.Val791=
XM_011532798.1:c.2487C>T (MSH6)	XP_011531100.1:p.Val829=
XM_011532799.1:c.2373C>T (MSH6)	XP_011531101.1:p.Val791=
XM_011532800.1:c.2373C>T (MSH6)	XP_011531102.1:p.Val791=
XM_024452819.1:c.2670C>T (MSH6)	XP_024308587.1:p.Val890=
XM_024452820.1:c.2487C>T (MSH6)	XP_024308588.1:p.Val829=
XM_024452821.1:c.2373C>T (MSH6)	XP_024308589.1:p.Val791=
XM_024452822.1:c.1764C>T (MSH6)	XP_024308590.1:p.Val588=
NM_000179.3:c.2670C>T (MSH6) MANE Select	NP_000170.1:p.Val890=
NM_001281492.2:c.2280C>T (MSH6)	NP_001268421.1:p.Val760=
NM_001281493.2:c.1764C>T (MSH6)	NP_001268422.1:p.Val588=
NM_001281494.2:c.1764C>T (MSH6)	NP_001268423.1:p.Val588=